Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Mtx1'

592917

Institutional Source

Beutler Lab

Gene Symbol

Mtx1

Ensembl Gene

ENSMUSG00000064068

Gene Name

metaxin 1

Synonyms

Gcap6

MMRRC Submission

067780-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R7684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89116388-89121214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89117739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 258 (I258K)

Ref Sequence

ENSEMBL: ENSMUSP00000073261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000073572] [ENSMUST00000077367] [ENSMUST00000118964] [ENSMUST00000119084] [ENSMUST00000142051] [ENSMUST00000152789] [ENSMUST00000167998] [ENSMUST00000174126] [ENSMUST00000197738]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029682

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	2.5e-22	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
EGF	417	456	1.99e0	SMART
Pfam:TSP_3	492	527	1e-12	PFAM
Pfam:TSP_3	551	586	2.2e-16	PFAM
Pfam:TSP_3	586	609	6.6e-7	PFAM
Pfam:TSP_3	610	647	2.6e-14	PFAM
Pfam:TSP_3	648	687	2.4e-10	PFAM
Pfam:TSP_3	688	723	4.2e-15	PFAM
Pfam:TSP_C	741	938	3.3e-99	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073572
AA Change: I258K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068
AA Change: I258K

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	4.2e-21	PFAM
Pfam:Tom37_C	239	317	8.1e-24	PFAM
Pfam:GST_C_3	267	383	1.7e-11	PFAM
Pfam:GST_C_2	270	377	2.7e-8	PFAM
Pfam:Tom37_C	300	369	1.1e-14	PFAM
low complexity region	396	415	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077367

SMART Domains

Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118964
AA Change: I227K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068
AA Change: I227K

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	5.9e-21	PFAM
Pfam:Tom37_C	216	287	6.3e-19	PFAM
Pfam:GST_C_3	216	352	5.1e-11	PFAM
Pfam:GST_C_2	238	344	1.9e-8	PFAM
Pfam:Tom37_C	269	338	9.5e-15	PFAM
low complexity region	365	384	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119084

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	8.2e-26	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
Pfam:TSP_3	455	490	4.4e-13	PFAM
Pfam:TSP_3	514	549	9.3e-17	PFAM
Pfam:TSP_3	549	572	2.8e-7	PFAM
Pfam:TSP_3	573	610	1.1e-14	PFAM
Pfam:TSP_3	611	650	1e-10	PFAM
Pfam:TSP_3	651	686	1.8e-15	PFAM
Pfam:TSP_C	704	904	7.9e-108	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068
AA Change: I156K

Domain	Start	End	E-Value	Type
Pfam:Tom37	12	57	1.6e-11	PFAM
Pfam:Tom37_C	138	216	5.4e-24	PFAM
Pfam:GST_C_3	166	282	1.1e-11	PFAM
Pfam:GST_C_2	169	276	1.8e-8	PFAM
Pfam:Tom37_C	199	268	7.2e-15	PFAM
low complexity region	295	314	N/A	INTRINSIC
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129055

Predicted Effect

probably benign
Transcript: ENSMUST00000142051

SMART Domains

Protein: ENSMUSP00000116136
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	1	124	2.52e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152789
AA Change: I18K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000167998

SMART Domains

Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173465

Predicted Effect

probably benign
Transcript: ENSMUST00000173475

SMART Domains

Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
low complexity region	97	116	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068
AA Change: I95K

Domain	Start	End	E-Value	Type
Pfam:Tom37	1	58	8.5e-16	PFAM
Pfam:Tom37_C	77	155	9.7e-24	PFAM
Pfam:GST_C_3	104	221	8.2e-12	PFAM
Pfam:GST_C_2	107	216	7.5e-9	PFAM
Pfam:Tom37_C	138	207	1.3e-14	PFAM
low complexity region	234	253	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068
AA Change: I120K

Domain	Start	End	E-Value	Type
Pfam:Tom37	14	82	1.1e-21	PFAM
Pfam:Tom37_C	102	178	3.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174126
AA Change: I18K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068
AA Change: I18K

Domain	Start	End	E-Value	Type
Pfam:Tom37_C	1	74	7.6e-23	PFAM
Pfam:GST_C_3	7	143	7.3e-12	PFAM
Pfam:GST_C_2	26	137	2.8e-9	PFAM
Pfam:Tom37_C	61	129	6.2e-15	PFAM
low complexity region	159	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197738

SMART Domains

Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	388	1e-186	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,659 (GRCm39)	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807 (GRCm38)	F60S	probably damaging	Het
Adam6b	G	A	12: 113,455,196 (GRCm39)	W671*	probably null	Het
Ankrd36	A	G	11: 5,520,113 (GRCm39)	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,366,285 (GRCm39)	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,869,663 (GRCm39)	M659K	probably benign	Het
Cacna1h	A	G	17: 25,608,346 (GRCm39)	Y854H	probably damaging	Het
Chd3	A	T	11: 69,248,692 (GRCm39)	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,359,335 (GRCm39)	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,533,450 (GRCm39)	D58E	probably damaging	Het
Cul9	T	G	17: 46,820,815 (GRCm39)	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,375,549 (GRCm39)	F11I	probably benign	Het
Cysrt1	A	T	2: 25,129,094 (GRCm39)	C139*	probably null	Het
Dnajc16	A	G	4: 141,501,879 (GRCm39)	V317A	probably benign	Het
Dnmt3a	T	C	12: 3,947,340 (GRCm39)	V437A	probably benign	Het
Dok5	T	C	2: 170,683,344 (GRCm39)	C202R	probably damaging	Het
Dusp11	T	A	6: 85,927,542 (GRCm39)	R164S	probably damaging	Het
Dysf	T	C	6: 84,077,117 (GRCm39)	S648P	probably benign	Het
Egfem1	A	T	3: 29,744,334 (GRCm39)	R581S	probably damaging	Het
Enpep	A	G	3: 129,115,094 (GRCm39)	F226S	probably damaging	Het
Ep400	A	G	5: 110,845,218 (GRCm39)	I1541T	unknown	Het
Exd1	A	G	2: 119,350,684 (GRCm39)	S526P	probably damaging	Het
Fam118a	A	G	15: 84,942,982 (GRCm39)	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,518,215 (GRCm39)	N193S	probably benign	Het
Fat3	A	G	9: 15,899,564 (GRCm39)		probably null	Het
Flg2	T	C	3: 93,126,956 (GRCm39)	V1956A	unknown	Het
Fzd10	A	G	5: 128,678,480 (GRCm39)	I67V	possibly damaging	Het
Gckr	A	T	5: 31,465,141 (GRCm39)	D370V	probably damaging	Het
Gm8797	A	T	3: 5,816,148 (GRCm39)	Q62L	probably benign	Het
H6pd	G	T	4: 150,080,519 (GRCm39)	Q109K	probably benign	Het
Higd1a	T	C	9: 121,679,322 (GRCm39)	K55R	possibly damaging	Het
Il1b	C	T	2: 129,209,277 (GRCm39)	V118I	probably benign	Het
Insr	T	C	8: 3,219,753 (GRCm39)	N923S	possibly damaging	Het
Krit1	A	G	5: 3,880,723 (GRCm39)	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,002,771 (GRCm39)	D1070G	probably null	Het
Lpcat2	T	A	8: 93,635,823 (GRCm39)	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,788,762 (GRCm39)	F427Y	probably benign	Het
Nckap5	T	C	1: 125,954,594 (GRCm39)	T653A	probably benign	Het
Npas3	A	T	12: 54,115,609 (GRCm39)	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,194,522 (GRCm39)	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,070,348 (GRCm39)	K154N	probably damaging	Het
Oard1	T	C	17: 48,723,726 (GRCm39)	L124P	probably damaging	Het
Or10ag57	T	C	2: 87,218,372 (GRCm39)	S108P	probably damaging	Het
Or10ak13	T	C	4: 118,639,471 (GRCm39)	M104V	probably benign	Het
Or51a10	G	A	7: 103,698,667 (GRCm39)	T298I	probably damaging	Het
Or51ah3	T	C	7: 103,210,425 (GRCm39)	F247S	probably benign	Het
Ovgp1	A	T	3: 105,887,272 (GRCm39)	T223S	probably damaging	Het
Pik3c2a	A	T	7: 115,987,312 (GRCm39)	Y536*	probably null	Het
Plekho2	A	T	9: 65,466,816 (GRCm39)		probably null	Het
Prelid3b	T	C	2: 174,310,210 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,578,214 (GRCm39)	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,532,311 (GRCm39)	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,044,577 (GRCm39)	V177L	probably benign	Het
Slc22a8	A	G	19: 8,587,294 (GRCm39)	I451M	probably benign	Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Snx20	T	C	8: 89,353,863 (GRCm39)	D289G	probably benign	Het
Sptb	A	G	12: 76,658,969 (GRCm39)	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,473,829 (GRCm39)	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,038,559 (GRCm39)		probably benign	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Thy1	G	A	9: 43,957,855 (GRCm39)	G13D	unknown	Het
Ticam1	A	G	17: 56,576,984 (GRCm39)	S704P	unknown	Het
Tmem151b	A	G	17: 45,857,929 (GRCm39)	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,996,559 (GRCm39)	N452S	probably benign	Het
Ttc9c	A	G	19: 8,789,128 (GRCm39)	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,385,325 (GRCm39)	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,758,862 (GRCm39)	S245Y	probably damaging	Het
Urb1	A	T	16: 90,583,006 (GRCm39)	L621*	probably null	Het
Wdr72	A	T	9: 74,054,292 (GRCm39)	T224S	probably damaging	Het
Zc3h18	T	G	8: 123,134,165 (GRCm39)	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908 (GRCm39)	N291K	probably benign	Het
Zfp609	T	C	9: 65,638,362 (GRCm39)	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,697,799 (GRCm39)	H303Q	probably damaging	Het

Other mutations in Mtx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Mtx1	APN	3	89,116,624 (GRCm39)	missense	probably damaging	0.99
IGL02544:Mtx1	APN	3	89,117,703 (GRCm39)	missense	probably damaging	1.00
R1677:Mtx1	UTSW	3	89,116,648 (GRCm39)	missense	probably benign	0.24
R4944:Mtx1	UTSW	3	89,121,205 (GRCm39)	missense	probably benign
R6006:Mtx1	UTSW	3	89,117,613 (GRCm39)	missense	probably damaging	1.00
R7690:Mtx1	UTSW	3	89,120,088 (GRCm39)	missense
R7820:Mtx1	UTSW	3	89,121,315 (GRCm39)	missense	probably benign	0.09
R8376:Mtx1	UTSW	3	89,121,478 (GRCm39)	missense	probably benign	0.00
R8939:Mtx1	UTSW	3	89,120,033 (GRCm39)	missense	probably damaging	0.97
R9486:Mtx1	UTSW	3	89,120,163 (GRCm39)	missense
Z1177:Mtx1	UTSW	3	89,121,412 (GRCm39)	missense	probably benign	0.01
Z1177:Mtx1	UTSW	3	89,121,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTGACACTTCCCACTG -3'
(R):5'- ATGTCTCTGCTGGAGGAGAAAC -3'

Sequencing Primer
(F):5'- GTAGATTCTCATTCCTAGCCCCAAG -3'
(R):5'- AACTACTGCCTGTGCTAGTGAGTAC -3'

Posted On

2019-11-12